Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.L1877delFs
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KMT2B

NM_014727.3:p.L1877delFs

Associated Papers

Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.

Park C et al.

Esmo Open, 2025

39778225 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_1

KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort.

Dhar D et al.

Journal of Movement Disorders, 2023

37309110 (PubMed )
Supplement: jmd-23035-Supplementary-Table-3.pdf

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s002.xlsx › Table_S2B

KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment.

Aksoy A et al.

Molecular Syndromology, 2022

Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases.

Horisawa S et al.

Annals of Clinical and Translational Neurology, 2020

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

Ng A et al.

Bmc Neurology, 2020

32546208 (PubMed )
Supplement: 12883_2020_1798_MOESM7_ESM.xlsx › Sheet1

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Kawarai T et al.

Parkinsonism & Related Disorders, 2018

Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.

Mathot L et al.

Cancer Research, 2017

28108514 (PubMed )
Supplement: 00085472can161921-sup-168924_1_supp_3776455_bhx39b.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."